Prenatal diagnosis of spinal muscular atrophy in Chinese by genetic analysis of fetal cells.
- Author:
Ting WU
1
;
Xin-sheng DING
;
Wen-lei LI
;
Juan YAO
;
Xiao-xuan DENG
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Amniotic Fluid; cytology; Cyclic AMP Response Element-Binding Protein; genetics; Exons; Female; Fetal Blood; cytology; Humans; Nerve Tissue Proteins; genetics; Polymerase Chain Reaction; Pregnancy; Prenatal Diagnosis; methods; RNA-Binding Proteins; genetics; SMN Complex Proteins; Sequence Analysis, DNA; Spinal Muscular Atrophies of Childhood; diagnosis; genetics
- From: Chinese Medical Journal 2005;118(15):1274-1277
- CountryChina
- Language:English
-
Abstract:
BACKGROUNDSpinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord. The survival motor neuron gene is SMA-determining gene deleted in approximately 95% of SMA patients. This study was undertaken to predict prenatal SMA efficiently and rapidly in families with previously affected child.
METHODSPrenatal diagnosis was made in 8 fetuses with a family history of SMA. Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) were used for the detection of the survival motor neuron gene.
RESULTSThe survival motor neuron gene was not found in 6 fetuses, ruling out the diagnosis of SMA. Two fetuses were detected positive and the pregnancies were terminated.
CONCLUSIONOur method is effective and convenient in prenatal diagnosis of SMA.
